Screening for lynch syndrome in endometrial carcinoma / 临床与实验病理学杂志

ABSTRACT

Purpose To evaluate the application of mismatch repair (MMR) genes proteins expression and methylationspecific to screen for Lynch syndrome patients.Methods 126 endometrial carcinoma patients were tested the protein expression of hMSH2,hMSH6h,hMLH1,hPMS2 by immunohistochemically of SP,and the methylation status of hMLH1 genes by the methylation-specific PCR.Results The result of MMR immunocytochemistry showed that 22％ (28/126) cases lacked MMR protein expression,including hMLH1-/hPMS2-in 12 cases,4 hMSH2-/hMSH6-,6 hPMS2-,3 hMLH6-and 3 hMLH1-.Meanwhile,the methylation-specific PCR test showed that 9 cases was methylation status of hMLH1 genes in 15 cases hMLH1-,and suggested the patients might be sporadic endometrial carcinoma.Conclusion Immunohistochemical of SP staining for MMR proteins in endometrial carcinoma patients,accompanied by testing for the methylation status of hMLH1 genes,may be an effective approach to screen for Lynch syndrome.